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GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 9, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000139201.5

Allele description [Variation Report for GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3]

GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3

Genes:
  • LOC129933794:ATAC-STARR-seq lymphoblastoid active region 15803 [Gene]
  • LOC129933795:ATAC-STARR-seq lymphoblastoid active region 15804 [Gene]
  • LOC129933796:ATAC-STARR-seq lymphoblastoid active region 15805 [Gene]
  • LOC129933797:ATAC-STARR-seq lymphoblastoid active region 15806 [Gene]
  • LOC129933798:ATAC-STARR-seq lymphoblastoid active region 15807 [Gene]
  • LOC129933799:ATAC-STARR-seq lymphoblastoid active region 15808 [Gene]
  • LOC129933801:ATAC-STARR-seq lymphoblastoid active region 15809 [Gene]
  • LOC129933802:ATAC-STARR-seq lymphoblastoid active region 15810 [Gene]
  • LOC129933803:ATAC-STARR-seq lymphoblastoid active region 15811 [Gene]
  • LOC129933804:ATAC-STARR-seq lymphoblastoid active region 15812 [Gene]
  • LOC129933810:ATAC-STARR-seq lymphoblastoid active region 15814 [Gene]
  • LOC129933812:ATAC-STARR-seq lymphoblastoid active region 15815 [Gene]
  • LOC129933815:ATAC-STARR-seq lymphoblastoid active region 15816 [Gene]
  • LOC129933816:ATAC-STARR-seq lymphoblastoid active region 15817 [Gene]
  • LOC129933817:ATAC-STARR-seq lymphoblastoid active region 15818 [Gene]
  • LOC129933819:ATAC-STARR-seq lymphoblastoid active region 15819 [Gene]
  • LOC129933820:ATAC-STARR-seq lymphoblastoid active region 15820 [Gene]
  • LOC129933821:ATAC-STARR-seq lymphoblastoid active region 15821 [Gene]
  • LOC129933822:ATAC-STARR-seq lymphoblastoid active region 15822 [Gene]
  • LOC129933823:ATAC-STARR-seq lymphoblastoid active region 15823 [Gene]
  • LOC129933824:ATAC-STARR-seq lymphoblastoid active region 15824 [Gene]
  • LOC129933825:ATAC-STARR-seq lymphoblastoid active region 15825 [Gene]
  • LOC129933826:ATAC-STARR-seq lymphoblastoid active region 15826 [Gene]
  • LOC129933827:ATAC-STARR-seq lymphoblastoid active region 15827 [Gene]
  • LOC129933828:ATAC-STARR-seq lymphoblastoid active region 15828 [Gene]
  • LOC129933831:ATAC-STARR-seq lymphoblastoid active region 15830 [Gene]
  • LOC129933835:ATAC-STARR-seq lymphoblastoid active region 15831 [Gene]
  • LOC129933836:ATAC-STARR-seq lymphoblastoid active region 15832 [Gene]
  • LOC129933837:ATAC-STARR-seq lymphoblastoid active region 15833 [Gene]
  • LOC129933838:ATAC-STARR-seq lymphoblastoid active region 15834 [Gene]
  • LOC129933839:ATAC-STARR-seq lymphoblastoid active region 15835 [Gene]
  • LOC129933793:ATAC-STARR-seq lymphoblastoid silent region 11509 [Gene]
  • LOC129933800:ATAC-STARR-seq lymphoblastoid silent region 11510 [Gene]
  • LOC129933805:ATAC-STARR-seq lymphoblastoid silent region 11511 [Gene]
  • LOC129933806:ATAC-STARR-seq lymphoblastoid silent region 11513 [Gene]
  • LOC129933807:ATAC-STARR-seq lymphoblastoid silent region 11514 [Gene]
  • LOC129933808:ATAC-STARR-seq lymphoblastoid silent region 11515 [Gene]
  • LOC129933809:ATAC-STARR-seq lymphoblastoid silent region 11516 [Gene]
  • LOC129933811:ATAC-STARR-seq lymphoblastoid silent region 11517 [Gene]
  • LOC129933813:ATAC-STARR-seq lymphoblastoid silent region 11518 [Gene]
  • LOC129933814:ATAC-STARR-seq lymphoblastoid silent region 11519 [Gene]
  • LOC129933818:ATAC-STARR-seq lymphoblastoid silent region 11520 [Gene]
  • LOC129933829:ATAC-STARR-seq lymphoblastoid silent region 11525 [Gene]
  • LOC129933830:ATAC-STARR-seq lymphoblastoid silent region 11526 [Gene]
  • LOC129933832:ATAC-STARR-seq lymphoblastoid silent region 11527 [Gene]
  • LOC129933833:ATAC-STARR-seq lymphoblastoid silent region 11528 [Gene]
  • LOC129933834:ATAC-STARR-seq lymphoblastoid silent region 11529 [Gene]
  • LOC129933840:ATAC-STARR-seq lymphoblastoid silent region 11531 [Gene]
  • BCL11A:BCL11 transcription factor A [Gene - OMIM - HGNC]
  • C2orf74-AS1:C2orf74 antisense RNA 1 [Gene - HGNC]
  • C2orf74-DT:C2orf74 divergent transcript [Gene - HGNC]
  • LOC126806224:MED14-independent group 3 enhancer GRCh37_chr2:61504619-61505818 [Gene]
  • MIR4432HG:MIR4432 host gene [Gene - HGNC]
  • LOC129388867:MPRA-validated peak3715 silencer [Gene]
  • LOC129388868:MPRA-validated peak3716 silencer [Gene]
  • LOC129388869:MPRA-validated peak3717 silencer [Gene]
  • LOC129388870:MPRA-validated peak3721 silencer [Gene]
  • REL-DT:REL divergent transcript [Gene - HGNC]
  • REL:REL proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • SANBR:SANT and BTB domain regulator of CSR [Gene - OMIM - HGNC]
  • LOC122757950:Sharpr-MPRA regulatory region 13579 [Gene]
  • LOC122757949:Sharpr-MPRA regulatory region 13586 [Gene]
  • LOC122757951:Sharpr-MPRA regulatory region 6736 [Gene]
  • USP34-DT:USP34 divergent transcript [Gene - HGNC]
  • LOC110121003:VISTA enhancer hs1142 [Gene]
  • LOC110120811:VISTA enhancer hs957 [Gene]
  • C2orf74:chromosome 2 open reading frame 74 [Gene - HGNC]
  • XPO1:exportin 1 [Gene - OMIM - HGNC]
  • MIR4432:microRNA 4432 [Gene - HGNC]
  • PEX13:peroxisomal biogenesis factor 13 [Gene - OMIM - HGNC]
  • PAPOLG:poly(A) polymerase gamma [Gene - OMIM - HGNC]
  • PUS10:pseudouridine synthase 10 [Gene - OMIM - HGNC]
  • SNORA70B:small nucleolar RNA, H/ACA box 70B [Gene - HGNC]
  • USP34:ubiquitin specific peptidase 34 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p16.1-15
Genomic location:
Preferred name:
GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3
HGVS:
  • NC_000002.12:g.(?_60359313)_(61704436_?)dup
  • NC_000002.10:g.(?_60439952)_(61785075_?)dup
  • NC_000002.11:g.(?_60586448)_(61931571_?)dup
Links:
dbVar: nssv1603395; dbVar: nsv916600
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000179713ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Mar 9, 2012) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000179713.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024